Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Dnajc10'

229846

Institutional Source

Beutler Lab

Gene Symbol

Dnajc10

Ensembl Gene

ENSMUSG00000027006

Gene Name

DnaJ heat shock protein family (Hsp40) member C10

Synonyms

JPDI, ERdj5, D2Ertd706e, 1200006L06Rik

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80315466-80354043 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 80350734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028392]

AlphaFold

Q9DC23

PDB Structure

Crystal structure of full-length ERdj5 [X-RAY DIFFRACTION]
Crystal structure of J-Trx1 fragment of ERdj5 [X-RAY DIFFRACTION]
Crystal structure of Trx4 domain of ERdj5 [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000028392

SMART Domains

Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006

Domain	Start	End	E-Value	Type
DnaJ	34	92	9.73e-26	SMART
Pfam:Thioredoxin	130	232	5.6e-21	PFAM
low complexity region	384	392	N/A	INTRINSIC
Pfam:Thioredoxin	454	553	2.3e-21	PFAM
Pfam:Thioredoxin	557	663	2e-21	PFAM
Pfam:Thioredoxin	672	776	5.8e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154912

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland. Female homozygous mutant mice are smaller than controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 60,039,645	T255A	possibly damaging	Het
Acat3	C	T	17: 12,927,407	A230T	probably benign	Het
Acsl1	C	A	8: 46,533,626	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,512,536	I316N	probably damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
AI429214	T	A	8: 36,994,208	V170E	probably benign	Het
Akap13	G	A	7: 75,725,304	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,350,368	Q190*	probably null	Het
Aox3	C	A	1: 58,158,216	Q574K	probably benign	Het
Apeh	A	G	9: 108,085,667	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,737,485	I151T	probably benign	Het
Arhgap28	A	G	17: 67,869,015	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,451,939	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,347,317	S384P	probably benign	Het
Atl1	G	T	12: 69,931,657		probably null	Het
Atp13a2	A	T	4: 140,995,391	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,333,214	N164K	probably benign	Het
Bnipl	T	A	3: 95,245,683	I162F	probably damaging	Het
Cacna1d	A	T	14: 30,123,163	L655I	probably damaging	Het
Canx	T	C	11: 50,304,358	I294M	probably damaging	Het
Casz1	T	C	4: 148,946,064	F1180S	probably damaging	Het
Cav3	T	C	6: 112,472,383	Y121H	probably benign	Het
Cd4	A	C	6: 124,870,536	S222A	probably benign	Het
Cds1	T	C	5: 101,812,550	I289T	probably benign	Het
Cep112	T	C	11: 108,508,258	F328L	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap44	A	T	16: 44,410,475	D273V	probably benign	Het
Clec7a	C	T	6: 129,470,955	G49D	probably benign	Het
Col22a1	G	A	15: 71,857,253	Q599*	probably null	Het
Col6a5	T	A	9: 105,945,600	H186L	unknown	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,724,458	R725*	probably null	Het
Edem3	A	T	1: 151,794,731	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,422,123	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,848,771	V365I	probably damaging	Het
Fam129a	A	C	1: 151,696,135	E277A	probably damaging	Het
Fam129a	A	G	1: 151,709,133	I494V	possibly damaging	Het
Fan1	T	C	7: 64,346,888	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,599,248	V44M	probably benign	Het
Gaa	G	A	11: 119,270,282	W50*	probably null	Het
Gm10032	T	C	14: 66,792,778		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,845,249		probably null	Het
Gprc5b	G	T	7: 118,984,175	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,858,534	Q394*	probably null	Het
Gucd1	A	G	10: 75,512,088	S38P	probably damaging	Het
Higd1a	A	T	9: 121,850,247	I58N	probably damaging	Het
Hmx3	G	C	7: 131,544,549	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,824,438	R337*	probably null	Het
Idua	T	A	5: 108,681,438	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,623,467	V218A	probably benign	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,187,640	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,358,777		probably null	Het
Lasp1	T	A	11: 97,836,134	D227E	probably benign	Het
Lhx6	A	G	2: 36,091,324	I85T	possibly damaging	Het
Limch1	A	G	5: 67,029,760	D840G	probably damaging	Het
Loxl4	C	G	19: 42,603,963	E385D	probably damaging	Het
Lrrtm4	A	T	6: 80,021,739	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,785,709		probably null	Het
Lyg1	T	C	1: 37,950,674	Y44C	probably damaging	Het
Maats1	T	C	16: 38,341,762	T6A	probably benign	Het
Map1a	A	G	2: 121,298,641	I129V	probably damaging	Het
Med27	C	T	2: 29,524,430	Q150*	probably null	Het
Ms4a5	A	T	19: 11,279,368	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,810,742	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,651,440		probably null	Het
Myo3a	A	G	2: 22,578,174	D480G	probably benign	Het
Neb	T	C	2: 52,310,638	Y343C	probably damaging	Het
Nrn1	A	C	13: 36,730,206	V34G	probably damaging	Het
Olfr1090	A	T	2: 86,754,452	N95K	probably benign	Het
Olfr1099	T	C	2: 86,959,098	Y120C	possibly damaging	Het
Olfr1302	A	G	2: 111,780,496	M59V	probably damaging	Het
Olfr679	A	G	7: 105,086,615	T300A	probably damaging	Het
Olfr690	C	T	7: 105,329,252	W313*	probably null	Het
Olfr722	A	G	14: 49,895,067	I245T	probably benign	Het
Olfr887	G	T	9: 38,085,276	V147L	probably benign	Het
Pdia4	A	T	6: 47,796,837	V526E	probably damaging	Het
Pdia6	T	C	12: 17,278,545	V167A	probably damaging	Het
Pgk2	A	G	17: 40,207,509	F343L	probably damaging	Het
Piwil1	T	C	5: 128,754,096	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169	Y341N	possibly damaging	Het
Plch2	T	C	4: 154,998,999	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355	M692K	probably benign	Het
Rassf8	G	A	6: 145,815,182	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	A	G	11: 119,450,201	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,768,788		probably null	Het
Rpe	T	G	1: 66,715,980	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,560,295	D36G	probably damaging	Het
Scn2a	T	A	2: 65,752,079	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,222,759	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,295,934	M17L	probably benign	Het
Slit3	T	C	11: 35,688,679	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,662,744	T193M	probably benign	Het
Smtn	T	A	11: 3,530,045	H392L	probably benign	Het
St8sia3	A	G	18: 64,269,674	D128G	probably damaging	Het
Sucla2	A	T	14: 73,592,668	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,836,923	T4A	probably benign	Het
Tdrd5	T	C	1: 156,276,573	R528G	probably damaging	Het
Tex44	T	C	1: 86,427,089	L240P	probably benign	Het
Tns4	A	T	11: 99,080,078		probably null	Het
Trappc10	A	T	10: 78,203,924	V731E	possibly damaging	Het
Ttf1	A	G	2: 29,071,345	K582E	probably damaging	Het
Ttf2	C	A	3: 100,948,193	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,147,532	E402G	probably damaging	Het
Ttn	A	T	2: 76,890,092		probably null	Het
Ugt8a	T	C	3: 125,875,546	D303G	probably damaging	Het
Ulk1	G	T	5: 110,792,436	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,158,192	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,316,074	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,413,807	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,186,975	F78S	probably damaging	Het
Zfp454	A	C	11: 50,873,995	S203R	probably benign	Het
Zfp616	C	A	11: 74,085,403	Q833K	probably benign	Het
Znhit2	A	G	19: 6,062,061	T279A	probably benign	Het
Zswim3	T	A	2: 164,819,993	I131N	probably benign	Het

Other mutations in Dnajc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Dnajc10	APN	2	80324752	splice site	probably benign
IGL01420:Dnajc10	APN	2	80345023	missense	possibly damaging	0.81
IGL01466:Dnajc10	APN	2	80321287	missense	probably benign	0.00
IGL01645:Dnajc10	APN	2	80340527	missense	possibly damaging	0.46
IGL01929:Dnajc10	APN	2	80328076	missense	probably damaging	0.99
IGL01958:Dnajc10	APN	2	80321304	splice site	probably benign
IGL02205:Dnajc10	APN	2	80349358	missense	possibly damaging	0.74
IGL02289:Dnajc10	APN	2	80340526	missense	probably damaging	0.98
IGL02661:Dnajc10	APN	2	80326740	splice site	probably benign
IGL02865:Dnajc10	APN	2	80331303	missense	probably benign
IGL03026:Dnajc10	APN	2	80349303	missense	probably damaging	0.96
IGL03407:Dnajc10	APN	2	80346641	missense	probably damaging	1.00
PIT4283001:Dnajc10	UTSW	2	80331395	missense	probably benign	0.19
R0092:Dnajc10	UTSW	2	80325682	missense	probably damaging	0.97
R0457:Dnajc10	UTSW	2	80344946	missense	possibly damaging	0.65
R1414:Dnajc10	UTSW	2	80347677	missense	probably damaging	0.99
R1739:Dnajc10	UTSW	2	80347662	missense	probably benign	0.03
R3717:Dnajc10	UTSW	2	80324745	splice site	probably benign
R3718:Dnajc10	UTSW	2	80324745	splice site	probably benign
R4020:Dnajc10	UTSW	2	80344952	missense	probably damaging	1.00
R4453:Dnajc10	UTSW	2	80346623	missense	probably damaging	0.98
R4585:Dnajc10	UTSW	2	80347778	missense	probably damaging	1.00
R4586:Dnajc10	UTSW	2	80347778	missense	probably damaging	1.00
R4772:Dnajc10	UTSW	2	80340526	missense	probably damaging	0.98
R5653:Dnajc10	UTSW	2	80349368	missense	probably damaging	1.00
R6157:Dnajc10	UTSW	2	80317391	start gained	probably benign
R6263:Dnajc10	UTSW	2	80343948	missense	probably damaging	1.00
R6303:Dnajc10	UTSW	2	80350664	missense	probably benign	0.07
R6932:Dnajc10	UTSW	2	80331336	missense	probably benign
R7104:Dnajc10	UTSW	2	80340815	missense	probably damaging	1.00
R7181:Dnajc10	UTSW	2	80319243	nonsense	probably null
R7458:Dnajc10	UTSW	2	80324750	splice site	probably null
R7842:Dnajc10	UTSW	2	80345065	missense	probably benign	0.04
R8123:Dnajc10	UTSW	2	80349360	missense	probably damaging	1.00
R8276:Dnajc10	UTSW	2	80349270	missense	probably benign
R8365:Dnajc10	UTSW	2	80346558	missense	probably damaging	1.00
R8915:Dnajc10	UTSW	2	80317457	missense	possibly damaging	0.62
R9025:Dnajc10	UTSW	2	80349293	missense	probably damaging	1.00
R9169:Dnajc10	UTSW	2	80332971	missense	probably benign
R9262:Dnajc10	UTSW	2	80346621	missense	probably benign	0.17
R9292:Dnajc10	UTSW	2	80346572	missense	probably benign
R9332:Dnajc10	UTSW	2	80344983	missense	probably benign	0.35
X0018:Dnajc10	UTSW	2	80350674	missense	probably damaging	0.97
X0024:Dnajc10	UTSW	2	80344962	missense	probably benign	0.19
Z1177:Dnajc10	UTSW	2	80319233	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCAAGCTTCTTGTGTGG -3'
(R):5'- ATGTTGTTATATACACTGGAGTCCC -3'

Sequencing Primer
(F):5'- AAGCAAGCTTCTTGTGTGGAAATGTC -3'
(R):5'- GAGTCTATAATGTCGGCTG -3'

Posted On

2014-09-17